All issues > Volume 24(2); 1981

Case Report

J Korean Pediatr Soc. 1981;24(2):164-168. Published online February 15, 1981.

A Case of Short Arm Deletion of Chromosome 14.

Ra Lee¹, Jin Choi¹, Woo Gill Lee¹, Chong Moo Park¹, Yong Kyun Paik²

¹Departments of Pediatrics, Hanyang University College of Medicine, Seoul, Korea
²Departments of Genetics, Hanyang University College of Medicine, Seoul, Korea

Abstract

We have experienced a case of short arm deletion of chromosome 14 (46, XY, del (14p)) in a 3y4 years old boy who had chief problems of mental retardation and microcephaly. This case was confirmed by chromosome analysis with various banding method. Dermatoglyphic analysis of the patient showed increased total ride counts die presence of whorl patterns and simian creases and flexion of 5th finger on both hands. Electroencephalography of the patient showed marked cerebral dysfunction and skull film revealed plagiocephaly. We reported this case with a brief review of the literature.

Keywords :Chromosome 14;deletion;mental retardation;short arm.